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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:Tremor
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Accession:DOID:9000495 term browser browse the term
Definition:Cyclical movement of a body part that can represent either a physiologic process or a manifestation of disease. Intention or action tremor, a common manifestation of CEREBELLAR DISEASES, is aggravated by movement. In contrast, resting tremor is maximal when there is no attempt at voluntary movement, and occurs as a relatively frequent manifestation of PARKINSON DISEASE.
Synonyms:exact_synonym: Action Tremor;   Action Tremors;   Coarse Tremor;   Coarse Tremors;   Continuous Tremor;   Continuous Tremors;   Darkness Tremor;   Darkness Tremors;   Fine Tremor;   Fine Tremors;   Intention Tremor;   Intention Tremors;   Intermittent Tremor;   Intermittent Tremors;   Involuntary Quiver;   Involuntary Quivers;   Limb Tremor;   Limb Tremors;   Massive Tremor;   Massive Tremors;   Muscle Tremor;   Muscle Tremors;   Neonatal Tremor;   Neonatal Tremors;   Nerve Tremor;   Nerve Tremors;   Passive Tremor;   Passive Tremors;   Perioral Tremor;   Perioral Tremors;   Persistent Tremor;   Persistent Tremors;   Pill Rolling Tremor;   Pill Rolling Tremors;   Rest Tremor;   Rest Tremors;   Resting Tremor;   Resting Tremors;   Saturnine Tremor;   Saturnine Tremors;   Semirhythmic Tremor;   Semirhythmic Tremors;   Senile Tremor;   Senile Tremors;   Static Tremor;   Static Tremors;   Tremors
 primary_id: MESH:D014202



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Tremor term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACHE acetylcholinesterase (Yt blood group) ISO CTD Direct Evidence: therapeutic CTD PMID:27083141 NCBI chr 7:92,915,065...92,922,079
Ensembl chr 7:106,311,944...106,318,184
JBrowse link
G ADORA2A adenosine A2a receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:16780890 NCBI chr22:5,233,876...5,248,622
Ensembl chr22:22,104,253...22,114,189
JBrowse link
G ADRB2 adrenoceptor beta 2 ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:190674 PMID:7902979 PMID:8102213 PMID:9151294 NCBI chr 5:144,259,756...144,398,421
Ensembl chr 5:150,267,554...150,315,892
JBrowse link
G ASF1A anti-silencing function 1A histone chaperone ISO ClinVar Annotator: match by term: Tremor ClinVar PMID:24824130 NCBI chr 6:116,702,314...116,717,445
Ensembl chr 6:120,843,461...120,858,471
JBrowse link
G ASPA aspartoacylase ISO associated with Hcn1A354V allele RGD PMID:27026062 RGD:13464274 NCBI chr17:3,492,304...3,517,882
Ensembl chr17:3,522,858...3,546,279
JBrowse link
G ATP2B3 ATPase plasma membrane Ca2+ transporting 3 ISO RGD PMID:27013529 RGD:13825260 NCBI chr  X:143,068,171...143,133,479
Ensembl chr  X:152,955,109...153,019,445
JBrowse link
G ATP7A ATPase copper transporting alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:22815746 NCBI chr  X:67,093,675...67,231,318
Ensembl chr  X:77,255,312...77,342,756
JBrowse link
G ATRN attractin ISO DNA:deletion:exon RGD PMID:12379762 RGD:1299186 NCBI chr20:3,556,445...3,733,322
Ensembl chr20:3,315,278...3,486,628
JBrowse link
G CACNA1A calcium voltage-gated channel subunit alpha1 A ISO ClinVar Annotator: match by term: Intention tremor ClinVar PMID:28492532 NCBI chr19:12,769,586...13,189,022
Ensembl chr19:13,507,102...13,804,729
JBrowse link
G CACNA1C calcium voltage-gated channel subunit alpha1 C ISO ClinVar Annotator: match by term: Intention tremor ClinVar NCBI chr12:2,166,672...2,817,827
Ensembl chr12:2,114,140...2,744,826
JBrowse link
G CALHM4 calcium homeostasis modulator family member 4 ISO ClinVar Annotator: match by term: Tremor ClinVar PMID:24824130 NCBI chr 6:114,337,385...114,369,423
Ensembl chr 6:118,482,269...118,512,046
JBrowse link
G CALHM5 calcium homeostasis modulator family member 5 ISO ClinVar Annotator: match by term: Tremor ClinVar PMID:24824130 NCBI chr 6:114,319,599...114,325,898
Ensembl chr 6:118,464,517...118,471,411
JBrowse link
G CALHM6 calcium homeostasis modulator family member 6 ISO ClinVar Annotator: match by term: Tremor ClinVar PMID:24824130 NCBI chr 6:114,263,062...114,265,898
Ensembl chr 6:118,409,813...118,411,574
JBrowse link
G CEP85L centrosomal protein 85 like ISO ClinVar Annotator: match by term: Tremor ClinVar PMID:24824130 NCBI chr 6:116,270,880...116,461,166
Ensembl chr 6:120,415,944...120,603,797
JBrowse link
G CHRM4 cholinergic receptor muscarinic 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9920179 NCBI chr11:46,342,384...46,350,366
Ensembl chr11:46,894,615...46,896,054
JBrowse link
G CPLX1 complexin 1 ISO RGD PMID:31875236 RGD:127285808 NCBI chr 4:889,037...930,046
Ensembl chr 4:819,833...858,953
JBrowse link
G DCBLD1 discoidin, CUB and LCCL domain containing 1 ISO ClinVar Annotator: match by term: Tremor ClinVar PMID:24824130 NCBI chr 6:115,290,931...115,358,249
Ensembl chr 6:119,434,847...119,519,282
JBrowse link
G DSE dermatan sulfate epimerase ISO ClinVar Annotator: match by term: Tremor ClinVar PMID:24824130 NCBI chr 6:114,173,641...114,246,129
Ensembl chr 6:118,347,786...118,386,193
JBrowse link
G FAM162B family with sequence similarity 162 member B ISO ClinVar Annotator: match by term: Tremor ClinVar PMID:24824130 NCBI chr 6:114,534,874...114,573,958
Ensembl chr 6:118,704,146...118,717,760
JBrowse link
G FAM184A family with sequence similarity 184 member A ISO ClinVar Annotator: match by term: Tremor ClinVar PMID:24824130 NCBI chr 6:116,768,098...116,957,070
Ensembl chr 6:120,908,644...121,026,173
JBrowse link
G GBA1 glucosylceramidase beta 1 ISO ClinVar Annotator: match by term: Resting tremor ClinVar PMID:1899336 PMID:1972019 PMID:2309702 PMID:2378352 PMID:2464926 More... NCBI chr 1:130,579,300...130,589,560
Ensembl chr 1:134,185,385...134,194,851
JBrowse link
G GLI2 GLI family zinc finger 2 ISO ClinVar Annotator: match by term: Tremor ClinVar PMID:25741868 NCBI chr2B:7,665,403...7,922,840
Ensembl chr2B:121,303,831...121,497,442
JBrowse link
G GOPC golgi associated PDZ and coiled-coil motif containing ISO ClinVar Annotator: match by term: Tremor ClinVar PMID:24824130 NCBI chr 6:115,368,682...115,411,140
Ensembl chr 6:119,509,936...119,552,010
JBrowse link
G GPRC6A G protein-coupled receptor class C group 6 member A ISO ClinVar Annotator: match by term: Tremor ClinVar PMID:24824130 NCBI chr 6:114,601,360...114,638,286
Ensembl chr 6:118,744,929...118,781,099
JBrowse link
G HCN1 hyperpolarization activated cyclic nucleotide gated potassium channel 1 ISO DNA:missense mutation:cds:c.1061C>T, p.A354V(rat) RGD PMID:25970616 RGD:11060746 NCBI chr 5:64,673,392...65,116,259
Ensembl chr 5:69,724,767...70,158,761
JBrowse link
G HTR1A 5-hydroxytryptamine receptor 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:11070179 NCBI chr 5:50,045,266...50,049,636
Ensembl chr 5:51,692,416...51,693,684
JBrowse link
G KPNA5 karyopherin subunit alpha 5 ISO ClinVar Annotator: match by term: Tremor ClinVar PMID:24824130 NCBI chr 6:114,488,850...114,550,061
Ensembl chr 6:118,641,551...118,684,486
JBrowse link
G LOC100988273 cytochrome P450 2D6-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:15570195 NCBI chr22:23,022,449...23,031,627 JBrowse link
G MAN1A1 mannosidase alpha class 1A member 1 ISO ClinVar Annotator: match by term: Tremor ClinVar PMID:24824130 NCBI chr 6:116,984,842...117,157,623
Ensembl chr 6:121,127,656...121,298,196
JBrowse link
G MCM9 minichromosome maintenance 9 homologous recombination repair factor ISO ClinVar Annotator: match by term: Tremor ClinVar PMID:24824130 NCBI chr 6:116,620,188...116,743,435
Ensembl chr 6:120,763,329...120,881,865
JBrowse link
G MPZ myelin protein zero ISO ClinVar Annotator: match by term: Tremor ClinVar PMID:25741868 NCBI chr 1:136,691,245...136,720,958
Ensembl chr 1:140,626,039...140,631,273
JBrowse link
G NUS1 NUS1 dehydrodolichyl diphosphate synthase subunit ISO ClinVar Annotator: match by term: Tremor ClinVar PMID:24824130 NCBI chr 6:115,486,422...115,521,317 JBrowse link
G PLN phospholamban ISO ClinVar Annotator: match by term: Tremor ClinVar PMID:24824130 NCBI chr 6:116,357,335...116,370,382
Ensembl chr 6:120,509,510...120,509,668
JBrowse link
G PRKAR1B protein kinase cAMP-dependent type I regulatory subunit beta ISO RGD PMID:33479380 RGD:150519900 NCBI chr 7:700,691...876,497
Ensembl chr 7:923,668...1,097,456
JBrowse link
G REL REL proto-oncogene, NF-kB subunit ISO CTD Direct Evidence: therapeutic CTD PMID:31481676 NCBI chr2A:60,972,022...61,013,562
Ensembl chr2A:62,113,581...62,155,241
JBrowse link
G RFX6 regulatory factor X6 ISO ClinVar Annotator: match by term: Tremor ClinVar PMID:24824130 NCBI chr 6:114,686,132...114,741,072
Ensembl chr 6:118,828,973...118,883,884
JBrowse link
G ROS1 ROS proto-oncogene 1, receptor tyrosine kinase ISO ClinVar Annotator: match by term: Tremor ClinVar PMID:24824130 NCBI chr 6:115,095,753...115,234,525
Ensembl chr 6:119,238,419...119,376,053
JBrowse link
G RSPH4A radial spoke head component 4A ISO ClinVar Annotator: match by term: Tremor ClinVar PMID:24824130 NCBI chr 6:114,423,322...114,441,199
Ensembl chr 6:118,568,907...118,585,812
JBrowse link
G RWDD1 RWD domain containing 1 ISO ClinVar Annotator: match by term: Tremor ClinVar PMID:24824130 NCBI chr 6:114,379,178...114,401,570
Ensembl chr 6:118,524,052...118,546,373
JBrowse link
G SCN8A sodium voltage-gated channel alpha subunit 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19261867 NCBI chr12:36,950,057...37,172,235
Ensembl chr12:37,730,900...37,876,357
JBrowse link
G SLC35F1 solute carrier family 35 member F1 ISO ClinVar Annotator: match by term: Tremor ClinVar PMID:24824130 NCBI chr 6:115,718,178...116,127,742
Ensembl chr 6:120,108,341...120,268,465
JBrowse link
G STXBP1 syntaxin binding protein 1 ISO ClinVar Annotator: match by term: tremors ClinVar PMID:20887364 PMID:24033266 PMID:25533962 PMID:25741868 PMID:26384463 More... NCBI chr 9:98,731,527...98,811,608
Ensembl chr 9:127,434,080...127,486,152
JBrowse link
G TBC1D24 TBC1 domain family member 24 ISO ClinVar Annotator: match by term: Tremor ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr16:1,331,630...1,362,320
Ensembl chr16:2,581,835...2,603,912
JBrowse link
G TMEM67 transmembrane protein 67 ISO ClinVar Annotator: match by term: Tremor ClinVar PMID:19466712 PMID:19508969 PMID:19540516 PMID:19574260 PMID:20607301 More... NCBI chr 8:90,378,623...90,442,904
Ensembl chr 8:92,324,402...92,387,437
JBrowse link
G TRAPPC3L trafficking protein particle complex subunit 3L ISO ClinVar Annotator: match by term: Tremor ClinVar PMID:24824130 NCBI chr 6:114,303,027...114,355,958
Ensembl chr 6:118,449,441...118,498,836
JBrowse link
G TRH thyrotropin releasing hormone ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:103733 PMID:416961 NCBI chr 3:127,037,069...127,041,299
Ensembl chr 3:134,383,016...134,387,736
JBrowse link
G UNC13A unc-13 homolog A ISO ClinVar Annotator: match by term: tremors ClinVar PMID:25741868 PMID:28192369 NCBI chr19:17,088,654...17,175,559
Ensembl chr19:18,068,006...18,150,642
JBrowse link
G VGLL2 vestigial like family member 2 ISO ClinVar Annotator: match by term: Tremor ClinVar PMID:24824130 NCBI chr 6:115,073,919...115,082,212
Ensembl chr 6:119,215,683...119,223,541
JBrowse link
G ZUP1 zinc finger containing ubiquitin peptidase 1 ISO ClinVar Annotator: match by term: Tremor ClinVar PMID:24824130 NCBI chr 6:114,443,844...114,477,220
Ensembl chr 6:118,598,031...118,621,081
JBrowse link
ATAXIA, INTENTION TREMOR, AND HYPOTONIA SYNDROME, CHILDHOOD-ONSET term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G POU4F1 POU class 4 homeobox 1 ISO ClinVar Annotator: match by term: Ataxia, intention tremor, and hypotonia syndrome, childhood-onset | ClinVar Annotator: match by term: POU4F1-related condition OMIM
ClinVar
PMID:8876243 PMID:25741868 PMID:28492532 PMID:29758562 PMID:33783914 NCBI chr13:59,821,614...59,829,671 JBrowse link
Childhood-onset Neurodegeneration with Ataxia, Tremor, Optic Atrophy, and Cognitive Decline term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC44A1 solute carrier family 44 member 1 ISO ClinVar Annotator: match by term: Neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline OMIM
ClinVar
PMID:25741868 PMID:28097321 PMID:31855247 NCBI chr 9:76,417,869...76,612,233
Ensembl chr 9:104,597,755...104,737,620
JBrowse link
congenital myopathy 16 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MYBPC1 myosin binding protein C1 ISO ClinVar Annotator: match by term: MYOGENIC TREMOR | ClinVar Annotator: match by term: Myopathy, congenital, with tremor OMIM
ClinVar
PMID:18414213 PMID:22610851 PMID:25741868 PMID:28492532 PMID:31025394 More... NCBI chr12:99,179,611...99,269,521
Ensembl chr12:102,578,014...102,669,618
JBrowse link
essential tremor term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCDC183 coiled-coil domain containing 183 ISO ClinVar Annotator: match by term: Essential tremor ClinVar PMID:33279834 NCBI chr 9:107,853,783...107,865,565
Ensembl chr 9:136,824,266...136,835,166
JBrowse link
G DNAJC13 DnaJ heat shock protein family (Hsp40) member C13 ISO ClinVar Annotator: match by term: Essential tremor ClinVar PMID:24218364 PMID:25118025 PMID:27270108 NCBI chr 3:129,492,658...129,612,040
Ensembl chr 3:136,970,007...137,088,775
JBrowse link
G DNHD1 dynein heavy chain domain 1 ISO ClinVar Annotator: match by term: Essential tremor ClinVar PMID:25741868 PMID:28492532 PMID:33279834 NCBI chr11:6,628,568...6,703,994
Ensembl chr11:6,312,254...6,386,993
JBrowse link
G DRD3 dopamine receptor D3 treatment ISO ClinVar Annotator: match by term: Essential tremor, susceptibility to | ClinVar Annotator: match by term: Hereditary essential tremor RGD
ClinVar
PMID:1362221 PMID:8225313 PMID:8411064 PMID:9514583 PMID:16650084 More... RGD:13506957 NCBI chr 3:111,265,834...111,317,176
Ensembl chr 3:118,187,636...118,237,403
JBrowse link
G FAM228B family with sequence similarity 228 member B ISO ClinVar Annotator: match by term: Essential tremor ClinVar PMID:33279834 NCBI chr2A:24,074,642...24,166,411
Ensembl chr2A:24,218,442...24,261,486
JBrowse link
G GABRA1 gamma-aminobutyric acid type A receptor subunit alpha1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15765150 NCBI chr 5:157,234,725...157,287,475
Ensembl chr 5:163,928,392...163,981,117
JBrowse link
G GEMIN5 gem nuclear organelle associated protein 5 ISO ClinVar Annotator: match by term: Essential tremor ClinVar PMID:33279834 NCBI chr 5:150,290,809...150,342,124
Ensembl chr 5:156,285,679...156,335,750
JBrowse link
G GPR151 G protein-coupled receptor 151 ISO ClinVar Annotator: match by term: Essential tremor ClinVar PMID:28492532 PMID:33279834 NCBI chr 5:141,960,691...141,963,922
Ensembl chr 5:147,975,633...147,976,892
JBrowse link
G GSTP1 glutathione S-transferase pi 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18215156 NCBI chr11:62,942,756...62,945,701
Ensembl chr11:66,253,421...66,256,472
JBrowse link
G HNMT histamine N-methyltransferase no_association ISO RGD PMID:18543121 PMID:19773194 RGD:5509775 RGD:5509776 NCBI chr2B:21,840,342...21,892,744
Ensembl chr2B:142,036,321...142,088,315
JBrowse link
G KCNN2 potassium calcium-activated channel subfamily N member 2 ISO DNA:missense mutation:cds:c. 866T>A (p. I289N)(rat) RGD PMID:28917524 RGD:38508907 NCBI chr 5:109,722,916...109,862,747
Ensembl chr 5:115,522,443...115,661,079
JBrowse link
G LINGO1 leucine rich repeat and Ig domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19182806 NCBI chr15:56,424,422...56,747,075
Ensembl chr15:72,328,079...72,347,016
JBrowse link
G LOC100974017 olfactory receptor 5K4 ISO ClinVar Annotator: match by term: Essential tremor ClinVar PMID:33279834 NCBI chr 3:95,447,849...95,448,799
Ensembl chr 3:102,131,411...102,132,316
JBrowse link
G LOC100974357 olfactory receptor 5K3 ISO ClinVar Annotator: match by term: Essential tremor ClinVar PMID:33279834 NCBI chr 3:95,481,458...95,482,423
Ensembl chr 3:102,164,856...102,165,821
JBrowse link
G MAPT microtubule associated protein tau no_association ISO DNA:SNP: :rs1052553 (human) RGD PMID:22911817 RGD:8158098 NCBI chr17:11,373,220...11,506,669
Ensembl chr17:11,458,159...11,523,129
JBrowse link
G MS4A14 membrane spanning 4-domains A14 ISO ClinVar Annotator: match by term: Essential tremor ClinVar PMID:33279834 NCBI chr11:55,632,378...55,653,574 JBrowse link
G MYO6 myosin VI ISO ClinVar Annotator: match by term: Essential tremor ClinVar PMID:12687499 PMID:18348273 PMID:23767834 PMID:25080041 PMID:25741868 More... NCBI chr 6:73,593,794...73,764,352
Ensembl chr 6:76,951,634...77,048,796
JBrowse link
G PRSS48 serine protease 48 ISO ClinVar Annotator: match by term: Essential tremor ClinVar PMID:33279834 NCBI chr 4:143,616,669...143,631,579
Ensembl chr 4:155,250,736...155,283,216
JBrowse link
G SH3D19 SH3 domain containing 19 ISO ClinVar Annotator: match by term: Essential tremor ClinVar PMID:33279834 NCBI chr 4:143,460,618...143,664,796
Ensembl chr 4:155,115,280...155,217,392
JBrowse link
G TGM4 transglutaminase 4 ISO ClinVar Annotator: match by term: Essential tremor ClinVar PMID:33279834 NCBI chr 3:44,775,855...44,815,691
Ensembl chr 3:45,830,764...45,870,208
JBrowse link
G ZNF528 zinc finger protein 528 ISO ClinVar Annotator: match by term: Essential tremor ClinVar PMID:25741868 PMID:28492532 PMID:33279834 NCBI chr19:49,346,292...49,367,704 JBrowse link
essential tremor 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANKRD11 ankyrin repeat domain containing 11 ISO ClinVar Annotator: match by term: Hand tremor ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr16:69,994,926...70,242,659
Ensembl chr16:89,633,849...89,683,311
JBrowse link
G ATP7B ATPase copper transporting beta ISO ClinVar Annotator: match by term: Hand tremor ClinVar PMID:25741868 NCBI chr13:33,063,698...33,144,528
Ensembl chr13:51,810,555...51,851,839
JBrowse link
G DRD3 dopamine receptor D3 ISO ClinVar Annotator: match by term: Tremor, hereditary essential, 1 ClinVar
OMIM
PMID:1362221 PMID:8225313 PMID:8411064 PMID:9514583 PMID:16650084 More... NCBI chr 3:111,265,834...111,317,176
Ensembl chr 3:118,187,636...118,237,403
JBrowse link
G GLI2 GLI family zinc finger 2 ISO ClinVar Annotator: match by term: Hand tremor ClinVar PMID:25741868 NCBI chr2B:7,665,403...7,922,840
Ensembl chr2B:121,303,831...121,497,442
JBrowse link
essential tremor 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FUS FUS RNA binding protein ISO ClinVar Annotator: match by term: FUS-related condition | ClinVar Annotator: match by term: Tremor, hereditary essential, 4 OMIM
ClinVar
PMID:12840784 PMID:12858291 PMID:16199547 PMID:19251627 PMID:19251628 More... NCBI chr16:23,775,389...23,786,881
Ensembl chr16:31,551,135...31,562,327
JBrowse link
essential tremor 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TENM4 teneurin transmembrane protein 4 ISO ClinVar Annotator: match by term: TENM4-related condition | ClinVar Annotator: match by term: Tremor, hereditary essential, 5 OMIM
ClinVar
PMID:25741868 PMID:26188006 PMID:28158909 PMID:28492532 PMID:34426522 NCBI chr11:73,712,808...75,001,831
Ensembl chr11:77,338,422...77,743,909
JBrowse link
essential tremor 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SCN4A sodium voltage-gated channel alpha subunit 4 ISO ClinVar Annotator: match by term: Tremor, hereditary essential, 6 ClinVar PMID:28492532 PMID:34913263 NCBI chr17:58,034,146...58,066,644
Ensembl chr17:63,128,550...63,161,043
JBrowse link
fragile X-associated tremor/ataxia syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FMR1 fragile X messenger ribonucleoprotein 1 ISO ClinVar Annotator: match by term: Fragile X tremor/ataxia syndrome | ClinVar Annotator: match by term: Fragile X-associated tremor/ataxia syndrome OMIM
ClinVar
PMID:25741868 NCBI chr  X:136,937,889...136,976,828
Ensembl chr  X:147,365,748...147,405,321
JBrowse link
G SOD1 superoxide dismutase 1 ISO mRNA:increased expression:prefrontal cortex, brain stem (mouse) RGD PMID:24418349 RGD:8655858 NCBI chr21:18,029,831...18,037,526 JBrowse link
NEURODEVELOPMENTAL DISORDER WITH INTENTION TREMOR, PYRAMIDAL SIGNS, DYSPRAXIA, AND OCULAR ANOMALIES term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SMG9 SMG9 nonsense mediated mRNA decay factor ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with intention tremor, pyramidal signs, dyspraxia, and ocular anomalies ClinVar
OMIM
PMID:35087184 NCBI chr19:40,679,952...40,704,104
Ensembl chr19:49,285,796...49,309,980
JBrowse link

Term paths to the root
Path 1
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  disease 15834
    Pathological Conditions, Signs and Symptoms 12336
      Signs and Symptoms 10382
        Neurologic Manifestations 10059
          Dyskinesias 2179
            Tremor 81
              ATAXIA, INTENTION TREMOR, AND HYPOTONIA SYNDROME, CHILDHOOD-ONSET 1
              Childhood-onset Neurodegeneration with Ataxia, Tremor, Optic Atrophy, and Cognitive Decline 1
              Geniospasm 0
              NEURODEVELOPMENTAL DISORDER WITH INTENTION TREMOR, PYRAMIDAL SIGNS, DYSPRAXIA, AND OCULAR ANOMALIES 1
              Primary Orthostatic Tremor 0
              Tremor of Intention, Ataxia, and Lipofuscinosis 0
              congenital myopathy 16 1
              essential tremor + 27
              fragile X-associated tremor/ataxia syndrome 2
Path 2
Term Annotations click to browse term
  disease 15834
    disease of anatomical entity 15490
      nervous system disease 13586
        central nervous system disease 12151
          brain disease 11416
            movement disease 2556
              Dyskinesias 2179
                Tremor 81
                  ATAXIA, INTENTION TREMOR, AND HYPOTONIA SYNDROME, CHILDHOOD-ONSET 1
                  Childhood-onset Neurodegeneration with Ataxia, Tremor, Optic Atrophy, and Cognitive Decline 1
                  Geniospasm 0
                  NEURODEVELOPMENTAL DISORDER WITH INTENTION TREMOR, PYRAMIDAL SIGNS, DYSPRAXIA, AND OCULAR ANOMALIES 1
                  Primary Orthostatic Tremor 0
                  Tremor of Intention, Ataxia, and Lipofuscinosis 0
                  congenital myopathy 16 1
                  essential tremor + 27
                  fragile X-associated tremor/ataxia syndrome 2
paths to the root